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GYG1: A distal myopathy with polyglucosan bodies.
Nicolau S, Tracy JA, Pisapia DJ, Tanji K, Milone M. Nicolau S, et al. JIMD Rep. 2020 May 13;55(1):88-90. doi: 10.1002/jmd2.12129. eCollection 2020 Sep. JIMD Rep. 2020. PMID: 32905144 Free PMC article.
Mutations in glycogenin-1 (GYG1) cause an adult-onset polyglucosan body myopathy. We report here a patient presenting with late-onset distal myopathy. We wish to highlight this rare clinical phenotype of GYG1-related myopathy and the histological clues leading to it …
Mutations in glycogenin-1 (GYG1) cause an adult-onset polyglucosan body myopathy. We report here a patient presenting with late-onset …
Comprehensive analysis of metabolism-related genes in sepsis reveals metabolic-immune heterogeneity and highlights GYG1 as a potential therapeutic target.
Zheng J, Qin K, Wang X, Feng B, Zhang Y, Wang Y, Qin H, Dai Q, Liu X, Yu K, Qin S. Zheng J, et al. Front Immunol. 2025 Nov 17;16:1682846. doi: 10.3389/fimmu.2025.1682846. eCollection 2025. Front Immunol. 2025. PMID: 41333476 Free PMC article.
Among the five hub genes (ALPL, CYP1B1, GYG1, OLAH, VNN1), GYG1 demonstrated the strongest predictive performance and was highly expressed in monocytes, neutrophils, and proliferating myeloid cells. High-risk patients displayed intensified monocyte-dendritic cell in …
Among the five hub genes (ALPL, CYP1B1, GYG1, OLAH, VNN1), GYG1 demonstrated the strongest predictive performance and was high …
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Conte F, Sam JE, Lefeber DJ, Passier R. Conte F, et al. Int J Mol Sci. 2023 May 11;24(10):8632. doi: 10.3390/ijms24108632. Int J Mol Sci. 2023. PMID: 37239976 Free PMC article.
We identified 58 IMDs presenting with cardiac complications: 3 defects of sugar/sugar-linked transporters (GLUT3, GLUT10, THTR1); 2 disorders of the pentose phosphate pathway (G6PDH, TALDO); 9 diseases of glycogen metabolism (GAA, GBE1, GDE, GYG1, GYS1, LAMP2, RBCK1, PRKAG …
We identified 58 IMDs presenting with cardiac complications: 3 defects of sugar/sugar-linked transporters (GLUT3, GLUT10, THTR1); 2 disorder …
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA. Megarbane A, et al. J Neuromuscul Dis. 2022;9(1):193-210. doi: 10.3233/JND-210652. J Neuromuscul Dis. 2022. PMID: 34602496 Free PMC article.
The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex.
Fastman NM, Liu Y, Ramanan V, Merritt H, Ambing E, DePaoli-Roach AA, Roach PJ, Hurley TD, Mellem KT, Ullman JC, Green E, Morgans D Jr, Tzitzilonis C. Fastman NM, et al. Cell Rep. 2022 Jul 5;40(1):111041. doi: 10.1016/j.celrep.2022.111041. Cell Rep. 2022. PMID: 35793618 Free article.
Although both enzymes are required for proper glycogen production, the nature of their interaction has been enigmatic. Here, we present the human GYS1:GYG1 complex in multiple conformations representing different functional states. We observe an asymmetric conformation of …
Although both enzymes are required for proper glycogen production, the nature of their interaction has been enigmatic. Here, we present the …
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).
Desikan M, Scalco RS, Manole A, Gardiner AR, Schapira AH, Lachmann RH, Houlden H, Holton JL, Phadke R, Quinlivan R. Desikan M, et al. Neuromuscul Disord. 2018 Apr;28(4):346-349. doi: 10.1016/j.nmd.2018.01.002. Epub 2018 Jan 10. Neuromuscul Disord. 2018. PMID: 29422440
Targeted next generation sequencing (NGS) revealed a homozygous mutation GYG1 in exon5:c.487delG:p.D163fs, confirming the diagnosis of Polyglucosan Body Myopathy 2 (PGBM2). ...Our case is consistent with the core phenotype of GYG1-related PGBM2 apart from an early o …
Targeted next generation sequencing (NGS) revealed a homozygous mutation GYG1 in exon5:c.487delG:p.D163fs, confirming the diagnosis o …
Polyglucosan storage myopathies.
Hedberg-Oldfors C, Oldfors A. Hedberg-Oldfors C, et al. Mol Aspects Med. 2015 Dec;46:85-100. doi: 10.1016/j.mam.2015.08.006. Epub 2015 Aug 13. Mol Aspects Med. 2015. PMID: 26278982 Review.
Mutations in eight human genes are known to be associated with polyglucosan storage involving muscle, namely GYG1, GBE1, RBCK1 (HOIL-1), PFKM, EPM2A, EPM2B (NHLRC1), PRDM8, and PRKAG2. There is also a common equine polysaccharide storage myopathy belonging to this group of …
Mutations in eight human genes are known to be associated with polyglucosan storage involving muscle, namely GYG1, GBE1, RBCK1 (HOIL- …
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.
Hedberg-Oldfors C, De Ridder W, Kalev O, Böck K, Visuttijai K, Caravias G, Töpf A, Straub V, Baets J, Oldfors A. Hedberg-Oldfors C, et al. Neuromuscul Disord. 2019 Dec;29(12):951-960. doi: 10.1016/j.nmd.2019.10.002. Epub 2019 Oct 23. Neuromuscul Disord. 2019. PMID: 31791869
Glycogen storage disease XV is caused by variants in the glycogenin-1 gene, GYG1, and presents as a predominant skeletal myopathy or cardiomyopathy. We describe two patients with late-onset myopathy and biallelic GYG1 variants. ...
Glycogen storage disease XV is caused by variants in the glycogenin-1 gene, GYG1, and presents as a predominant skeletal myopathy or …
GYG1 as a Dual Biomarker of Glucagon-Like Peptide-1 Receptor Agonist Weight-Loss Response: Findings from an Integrative Multi-Omics Substudy of a Phase II Trial.
Li L, Hou M, Gao Q, Zhao L, Dong R. Li L, et al. Endocrinol Metab (Seoul). 2026 Feb 4. doi: 10.3803/EnM.2025.2641. Online ahead of print. Endocrinol Metab (Seoul). 2026. PMID: 41634531 Free article.
RESULTS: GZR18-treated obese patients exhibited a dose-dependent reduction in BMI, with 48 mg biweekly producing the steepest declines (Z<-0.4 vs. placebo: Z=-0.22, P<0.001). We identified glycogenin 1 (GYG1) as a dual-function biomarker (coefficient=2.0 for predicti …
RESULTS: GZR18-treated obese patients exhibited a dose-dependent reduction in BMI, with 48 mg biweekly producing the steepest declines (Z< …
64 results